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Page 1
Generation of iPSCs from identical twin, one affected by LHON and one unaffected, both carrying a combination of two mitochondrial variants: m.14484 T>C and m.10680G>A.
Peron C, Cavaliere A, Fasano C, Iannielli A, Spagnolo M, Legati A, Nicol Colombo M, Rizzo A, Sciacca FL, Carelli V, Broccoli V, Lamperti C, Tiranti V. Peron C, et al. Among authors: lamperti c. Stem Cell Res. 2024 Jun;77:103406. doi: 10.1016/j.scr.2024.103406. Epub 2024 Mar 24. Stem Cell Res. 2024. PMID: 38552355 Free article.
Muscle coenzyme Q10 level in statin-related myopathy.
Lamperti C, Naini AB, Lucchini V, Prelle A, Bresolin N, Moggio M, Sciacco M, Kaufmann P, DiMauro S. Lamperti C, et al. Arch Neurol. 2005 Nov;62(11):1709-12. doi: 10.1001/archneur.62.11.1709. Arch Neurol. 2005. PMID: 16286544 Clinical Trial.
McArdle disease: the mutation spectrum of PYGM in a large Italian cohort.
Bruno C, Cassandrini D, Martinuzzi A, Toscano A, Moggio M, Morandi L, Servidei S, Mongini T, Angelini C, Musumeci O, Comi GP, Lamperti C, Filosto M, Zara F, Minetti C. Bruno C, et al. Among authors: lamperti c. Hum Mutat. 2006 Jul;27(7):718. doi: 10.1002/humu.9434. Hum Mutat. 2006. PMID: 16786513
Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy.
Gai X, Ghezzi D, Johnson MA, Biagosch CA, Shamseldin HE, Haack TB, Reyes A, Tsukikawa M, Sheldon CA, Srinivasan S, Gorza M, Kremer LS, Wieland T, Strom TM, Polyak E, Place E, Consugar M, Ostrovsky J, Vidoni S, Robinson AJ, Wong LJ, Sondheimer N, Salih MA, Al-Jishi E, Raab CP, Bean C, Furlan F, Parini R, Lamperti C, Mayr JA, Konstantopoulou V, Huemer M, Pierce EA, Meitinger T, Freisinger P, Sperl W, Prokisch H, Alkuraya FS, Falk MJ, Zeviani M. Gai X, et al. Among authors: lamperti c. Am J Hum Genet. 2013 Sep 5;93(3):482-95. doi: 10.1016/j.ajhg.2013.07.016. Epub 2013 Aug 29. Am J Hum Genet. 2013. PMID: 23993194 Free PMC article.
Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up.
Magri F, Govoni A, D'Angelo MG, Del Bo R, Ghezzi S, Sandra G, Turconi AC, Sciacco M, Ciscato P, Bordoni A, Tedeschi S, Fortunato F, Lucchini V, Bonato S, Lamperti C, Coviello D, Torrente Y, Corti S, Moggio M, Bresolin N, Comi GP. Magri F, et al. Among authors: lamperti c. J Neurol. 2011 Sep;258(9):1610-23. doi: 10.1007/s00415-011-5979-z. Epub 2011 Mar 12. J Neurol. 2011. PMID: 21399986
153 results